Canonical Allele Identifier: CA2587946781

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7525166-G-GTAAAATCCATT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525166_7525167insTAAAATCCATT , CM000681.2:g.7525166_7525167insTAAAATCCATT	GRCh38
NC_000019.9:g.7590052_7590053insTAAAATCCATT , CM000681.1:g.7590052_7590053insTAAAATCCATT	GRCh37
NC_000019.8:g.7496052_7496053insTAAAATCCATT	NCBI36
NG_015806.1:g.7557_7558insTAAAATCCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.237_237+1insTAAAATCCATT MANE Select	ENSP00000264079.5:n.237_237+1insTAAAATCCATT
ENST00000264079.10:c.237_237+1insTAAAATCCATT	ENSP00000264079.5:n.237_237+1insTAAAATCCATT
ENST00000394321.9:n.317_317+1insTAAAATCCATT
ENST00000596390.1:n.353_354insTAAAATCCATT
ENST00000601003.1:c.237_237+1insTAAAATCCATT	ENSP00000469074.1:n.237_237+1insTAAAATCCATT
NM_020533.2:c.237_237+1insTAAAATCCATT	NP_065394.1:n.237_237+1insTAAAATCCATT
NM_020533.3:c.237_237+1insTAAAATCCATT MANE Select	NP_065394.1:n.237_237+1insTAAAATCCATT